F2-III:3 was characterized by a rare type of RP associated with macular and choroid coloboma, and had a homozygous mutation c.437T > A (p.V146D) in RDH12. RDH12 coded protein is predominantly expressed in the inner segment of rod and cone photoreceptors as an NADPH-dependent reductase involved in the conversion of all-trans-retinal and 11-cis-retinal to the corresponding retinols [48]. This evidence concerns the gene RDH12 and retinitis pigmentosa 1.